Logo image
Thoracic Sertoli–Leydig cell tumor: An alternative type of pleuropulmonary blastoma associated with DICER1 variation
Journal article   Open access   Peer reviewed

Thoracic Sertoli–Leydig cell tumor: An alternative type of pleuropulmonary blastoma associated with DICER1 variation

William Terry, Erica M. Carlisle, Paige Mallinger, Alexander T. Nelson, David Gordon, Yoav H. Messinger, Amanda Field, Louis P. Dehner, D. Ashley Hill and Kris Ann P. Schultz
Pediatric blood & cancer, Vol.68(11), pp.e29284-n/a
11/2021
DOI: 10.1002/pbc.29284
PMCID: PMC8463509
PMID: 34398502
url
https://www.ncbi.nlm.nih.gov/pmc/articles/8463509View
Open Access

Abstract

A 2‐year‐old boy presented with a large cystic and solid chest mass arising from the lung, radiographically consistent with pleuropulmonary blastoma (PPB). He underwent right lower lobectomy with resection of a well‐circumscribed, mixed solid and cystic mass. The solid areas were composed of cords and nests of tumor cells in the myxoid stroma and retiform foci whose pathologic and immunophenotypic findings were consistent with a sex cord‐stromal tumor with features of a Sertoli–Leydig cell tumor. Tumor testing showed a pathogenic variant in the DICER1 RNase IIIb hotspot domain. Family history was suggestive of DICER1 germline pathogenic DICER1 variation in absence of a detectable germline variant. He received 12 cycles of chemotherapy with ifosfamide, vincristine, dactinomycin and doxorubicin (IVADo) and surgery with complete response. One year after completion of chemotherapy, imaging studies showed concern for recurrence confirmed by thorascopic biopsy of a pleural‐based mass. He is currently receiving cisplatin‐based chemotherapy with reduction in tumor size. Review of the literature showed no similar cases; however, review of our pathology files revealed a single similar case of anterior mediastinal Sertoli cell tumor in a 3‐year‐old girl.
DICER1 pleuropulmonary blastoma Sertoli–Leydig cell tumor thoracic tumor

Details

Metrics

Logo image